NM_004299.6(ABCB7):c.1300G>A (p.Glu434Lys) AND Anemia sideroblastic and spinocerebellar ataxia
Significance: | Pathogenic |
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ClinVar: | RCV000012331 |
Variant: NM_004299.6(ABCB7):c.1300G>A (p.Glu434Lys) |
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Type: | Variant |
Allele: NM_004299.6(ABCB7):c.1300G>A (p.Glu434Lys) 26614 |
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Gene: | ABCB7 |
Type: | single nucleotide variant |
Location: |
ChrX: 75070433
- assembly
GRCh38 ChrX: 74290268 - assembly GRCh37 |
References: | dbSNP:
80356714 OMIM: 300135.0002 |
Condition |
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Disease: | Anemia sideroblastic and spinocerebellar ataxia |